Canonical Allele Identifier: CA2654957289

Gene: COL6A1

Linked Data

• gnomAD v4: 21-45988992-TG-T

Genomic Alleles

HGVS	Genome Assembly
NC_000021.9:g.45988994del , CM000683.2:g.45988994del	GRCh38
NC_000021.8:g.47408908del , CM000683.1:g.47408908del	GRCh37
NC_000021.7:g.46233336del	NCBI36
NG_008674.1:g.12246del , LRG_475:g.12246del

Transcript Alleles

HGVS	Amino-acid change
ENST00000361866.8:c.805-90del MANE Select	ENSP00000355180.3:n.805-90del
ENST00000361866.7:c.805-90del	ENSP00000355180.3:n.805-90del
ENST00000612273.1:c.805-90del	ENSP00000483630.1:n.805-90del
NM_001848.2:c.805-90del , LRG_475t1:c.805-90del	NP_001839.2:n.805-90del
NM_001848.3:c.805-90del MANE Select	NP_001839.2:n.805-90del